November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
10 citations
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August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
6 citations
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October 1980 in “Archives of Dermatology” This review discusses various metabolic and vitamin disorders affecting hair structure, including Menkes' syndrome, arginosuccinicaciduria, and recent findings on vitamin-related alopecia, but reports no new clinical results.
2 citations
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January 1986 in “Dermatology” This letter discusses alopecia universalis and Kallman’s Syndrome, and offers no new clinical results.
June 2011 in “European Journal of Pediatric Dermatology” This study diagnosed an 11-year-old girl with initial androgenetic alopecia and monilethrix after observing unique hair shaft abnormalities and skin conditions, unlike her affected parents.